Qiaowei Liang

机构：Yokohama City University · ORCID：0000-0002-5207-9588

发表论文 11 篇 · 总被引 245 次 · h-index 6

代表论文

• A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA) (2021 · Journal of Molecular Diagnostics · 被引 114)
• Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia (2023 · Clinical Chemistry · 被引 41)
• Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing (2022 · Clinical Chemistry · 被引 36)
• Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing (2023 · Thrombosis and Haemostasis · 被引 26)
• A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder (2023 · Cell Reports · 被引 15)
• Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay (2025 · npj Genomic Medicine · 被引 6)